ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "benign" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 93
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HGVS dbSNP
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000038.6(APC):c.4913T>C (p.Met1638Thr) rs201797422
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.4(ATM):c.496+4T>C rs587781375
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000059.3(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.516+17G>T rs765435155
NM_000059.3(BRCA2):c.6937+13T>G rs587780868
NM_000059.3(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970
NM_000059.3(BRCA2):c.8332-6G>T rs587780872
NM_000059.3(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517
NM_000059.3(BRCA2):c.8632+14T>C rs730881596
NM_000116.5(TAFAZZIN):c.110-17= rs62617809
NM_000162.5(GCK):c.208+11G>A rs77440690
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.3439-10T>A rs730881819
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000249.3(MLH1):c.1731+8T>C rs370108219
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.545+19G>T rs41285099
NM_000249.3(MLH1):c.884+16A>G rs377598055
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000251.2(MSH2):c.1276+16G>A rs368120695
NM_000251.2(MSH2):c.1277-16T>C rs368653974
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000383.4(AIRE):c.1279-18C>T rs72650678
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_001048171.1(MUTYH):c.1144+9A>T rs587780742
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001148.6(ANK2):c.11032+17G>A rs587780853
NM_001148.6(ANK2):c.11032+19A>G rs200769962
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552
NM_001276345.2(TNNT2):c.720-6G>A rs113471285
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002878.3(RAD51D):c.904-12TTC[2] rs779850240
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788
NM_004006.2(DMD):c.7555G>A (p.Asp2519Asn) rs771877780
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004646.3(NPHS1):c.128T>C (p.Val43Ala) rs140626538
NM_005633.3(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636
NM_005691.3(ABCC9):c.2238-1G>A rs141281214
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007294.3(BRCA1):c.135-20T>G rs80358025
NM_007294.3(BRCA1):c.4097-20C>T rs80358169
NM_007294.3(BRCA1):c.5468-10_5468-9del rs273902770
NM_007294.4(BRCA1):c.*20C>T rs375042815
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171
NM_012452.2(TNFRSF13B):c.*86_*88del rs150068036
NM_014049.5(ACAD9):c.-44_-41dup rs387906242
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_015120.4(ALMS1):c.78_83del (p.Glu28_Glu29del) rs754175473
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.2204C>T (p.Pro735Leu) rs199743500
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
NM_032043.3(BRIP1):c.1629-3T>C rs587780828
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_138694.4(PKHD1):c.1964+17G>T rs201349527

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